Marciano Beatriz E, Holland Steven M
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Front Immunol. 2017 Aug 9;8:937. doi: 10.3389/fimmu.2017.00937. eCollection 2017.
Primary immunodeficiency diseases (PID) result from defects in genes affecting the immune and other systems in many and varied ways (1, 2). Until the last few years, treatments have been largely supportive, with the exception of bone marrow transplantation. However, recent advances in immunobiology, genetics, and the explosion of discovery and commercialization of biologic modifiers have drastically altered the landscape and opportunities in clinical immunology. Therapeutic options and life expectancy of PID patients have also improved dramatically, in large part as a result of better prevention and treatment of infections as well as better understanding and treatment of autoimmune complications (3). As early-life infection-related mortality declines we should anticipate the emergence of other conditions that were previously not appreciated, including malignancies and degenerative disorders unmasked by increasing longevity (4). The genomic revolution has identified literally hundreds of new genetic etiologies of immune dysfunction, many of which are or will soon be eligible for targeted therapies. These emerging immunomodulatory agents represent new therapeutic options in PIDs (5).
原发性免疫缺陷病（PID）是由多种方式影响免疫及其他系统的基因缺陷引起的（1, 2）。直到过去几年，除了骨髓移植外，治疗方法主要是支持性的。然而，免疫生物学、遗传学的最新进展以及生物修饰剂发现和商业化的激增，极大地改变了临床免疫学的格局和机遇。PID患者的治疗选择和预期寿命也有了显著改善，这在很大程度上得益于更好地预防和治疗感染以及更好地理解和治疗自身免疫性并发症（3）。随着与生命早期感染相关的死亡率下降，我们应该预期会出现其他以前未被认识到的疾病，包括因寿命延长而暴露的恶性肿瘤和退行性疾病（4）。基因组革命已经确定了数百种新的免疫功能障碍的遗传病因，其中许多已经或即将有资格接受靶向治疗。这些新兴的免疫调节药物代表了PID的新治疗选择（5）。
